Academic Journal
Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism
| العنوان: | Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism |
|---|---|
| المؤلفون: | van Outersterp, Rianne E., Moons, Sam J., Engelke, Udo F. H., Bentlage, Herman, Peters, Tessa M. A., van Rooij, Arno, Huigen, Marleen C. D. G., de Boer, Siebolt, van der Heeft, Ed, Kluijtmans, Leo A. J., van Karnebeek, Clara D. M., Wevers, Ron A., Berden, Giel, Oomens, Jos, Boltje, Thomas J., Coene, Karlien L. M., Martens, Jonathan |
| المساهمون: | Nederlandse Organisatie voor Wetenschappelijk Onderzoek |
| المصدر: | Communications Biology ; volume 4, issue 1 ; ISSN 2399-3642 |
| بيانات النشر: | Springer Science and Business Media LLC |
| سنة النشر: | 2021 |
| الوصف: | The identification of disease biomarkers plays a crucial role in developing diagnostic strategies for inborn errors of metabolism and understanding their pathophysiology. A primary metabolite that accumulates in the inborn error phenylketonuria is phenylalanine, however its levels do not always directly correlate with clinical outcomes. Here we combine infrared ion spectroscopy and NMR spectroscopy to identify the Phe-glucose Amadori rearrangement product as a biomarker for phenylketonuria. Additionally, we find analogous amino acid-glucose metabolites formed in the body fluids of patients accumulating methionine, lysine, proline and citrulline. Amadori rearrangement products are well-known intermediates in the formation of advanced glycation end-products and have been associated with the pathophysiology of diabetes mellitus and ageing, but are now shown to also form under conditions of aminoacidemia. They represent a general class of metabolites for inborn errors of amino acid metabolism that show potential as biomarkers and may provide further insight in disease pathophysiology. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1038/s42003-021-01909-5 |
| الاتاحة: | http://dx.doi.org/10.1038/s42003-021-01909-5 https://www.nature.com/articles/s42003-021-01909-5.pdf https://www.nature.com/articles/s42003-021-01909-5 |
| Rights: | https://creativecommons.org/licenses/by/4.0 ; https://creativecommons.org/licenses/by/4.0 |
| رقم الانضمام: | edsbas.8242C432 |
| قاعدة البيانات: | BASE |
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